突变 ATRX：ATRX 综合征和癌症的发病机制。

IF 3.9 3区生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Frontiers in Molecular Biosciences Pub Date : 2024-10-16 eCollection Date: 2024-01-01 DOI:10.3389/fmolb.2024.1434398

Kejia Yuan, Yan Tang, Zexian Ding, Lei Peng, Jinghua Zeng, Huaying Wu, Qi Yi

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引用次数: 0

摘要

转录调节因子 ATRX 是一种遗传因子，与一系列残疾有关，包括智力、造血、骨骼、面部和泌尿生殖系统残疾。ATRX 基因突变在很大程度上导致了 ATRX 综合征的发病机制，并且经常在胶质瘤和许多其他癌症中被检测到。这些突变破坏了 ATRX 的组织、亚细胞定位和转录活性，导致染色体不稳定，并影响其与 DAXX、EZH2 和 TERRA 等关键调控蛋白的相互作用。ATRX 还是一种转录调控因子，参与神经元紊乱和各种疾病的发病机制。总之，ATRX 是一种核心蛋白，其异常会导致多种疾病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Mutant ATRX: pathogenesis of ATRX syndrome and cancer.

The transcriptional regulator ATRX, a genetic factor, is associated with a range of disabilities, including intellectual, hematopoietic, skeletal, facial, and urogenital disabilities. ATRX mutations substantially contribute to the pathogenesis of ATRX syndrome and are frequently detected in gliomas and many other cancers. These mutations disrupt the organization, subcellular localization, and transcriptional activity of ATRX, leading to chromosomal instability and affecting interactions with key regulatory proteins such as DAXX, EZH2, and TERRA. ATRX also functions as a transcriptional regulator involved in the pathogenesis of neuronal disorders and various diseases. In conclusion, ATRX is a central protein whose abnormalities lead to multiple diseases.

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来源期刊

Frontiers in Molecular Biosciences Biochemistry, Genetics and Molecular Biology-Biochemistry

CiteScore

7.20

自引率

4.00%

发文量

1361

审稿时长

14 weeks

期刊介绍： Much of contemporary investigation in the life sciences is devoted to the molecular-scale understanding of the relationships between genes and the environment — in particular, dynamic alterations in the levels, modifications, and interactions of cellular effectors, including proteins. Frontiers in Molecular Biosciences offers an international publication platform for basic as well as applied research; we encourage contributions spanning both established and emerging areas of biology. To this end, the journal draws from empirical disciplines such as structural biology, enzymology, biochemistry, and biophysics, capitalizing as well on the technological advancements that have enabled metabolomics and proteomics measurements in massively parallel throughput, and the development of robust and innovative computational biology strategies. We also recognize influences from medicine and technology, welcoming studies in molecular genetics, molecular diagnostics and therapeutics, and nanotechnology. Our ultimate objective is the comprehensive illustration of the molecular mechanisms regulating proteins, nucleic acids, carbohydrates, lipids, and small metabolites in organisms across all branches of life. In addition to interesting new findings, techniques, and applications, Frontiers in Molecular Biosciences will consider new testable hypotheses to inspire different perspectives and stimulate scientific dialogue. The integration of in silico, in vitro, and in vivo approaches will benefit endeavors across all domains of the life sciences.